AiPD: Autoinhibited Protein Database

Q9Y5H9

Gene name	PCDHA2
Protein name	Protocadherin alpha-2
Names	PCDH-alpha-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56146
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

854-948 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

854-948 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q9Y5H9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y5H9-F1	Predicted				AlphaFoldDB

1014 variants for Q9Y5H9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000508600 CA3454461 rs150254638	805	R>H	Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361230307 rs1554119211	3	S>Y		No	ClinGen gnomAD
CA128365092 rs374405792	4	S>F		No	ClinGen ESP TOPMed gnomAD
CA3445530 rs555371032	5	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1395231181 CA361230341	5	I>M		No	ClinGen TOPMed gnomAD
CA3445531 rs782158371	5	I>T		No	ClinGen ExAC gnomAD
CA3445529 rs555371032	5	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782791166 CA361230391	7	R>S		No	ClinGen ExAC gnomAD
CA361230399 rs1554119216	8	G>D		No	ClinGen gnomAD
rs1452561536 CA361230412	9	R>L		No	ClinGen TOPMed
CA3445533 rs781865981	11	A>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA361230432 rs1581611821	11	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA361230453 rs781865981	11	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3445534 rs368471539	12	W>*		No	ClinGen ESP ExAC gnomAD
rs1554119218 CA361230475	13	T>A		No	ClinGen gnomAD
CA128365113 rs782163848	14	R>L		No	ClinGen ExAC TOPMed gnomAD
rs782163848 CA3445536	14	R>P		No	ClinGen ExAC TOPMed gnomAD
CA361230524 rs782163848	14	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs781937670 CA128365108	14	R>W		No	ClinGen ExAC gnomAD
rs371887838 CA3445537	16	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs781893367 CA3445539	17	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361230613 rs781893367	17	S>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361230633 rs1554119224	18	L>P		No	ClinGen gnomAD
CA3445540 rs573551999	21	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA361230729 rs1562150190	24	W>*		No	ClinGen Ensembl
CA3445542 rs201493367	24	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1281191089 CA361230725	24	W>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361230734 rs9686540	25	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs9686540 CA3445543 VAR_059179	25	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361230732 rs9686540	25	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3445544 CA3445546 rs369107883	26	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3445545 rs369107883	26	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA361230759 rs1300209459	27	G>A		No	ClinGen TOPMed
TCGA novel	27	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3445547 rs782012270	28	S>R		No	ClinGen ExAC gnomAD
CA3445548 rs782259873	29	G>R		No	ClinGen ExAC TOPMed gnomAD
rs782370691 CA3445549	30	Q>K		No	ClinGen ExAC gnomAD
CA3445550 rs781966168	30	Q>R		No	ClinGen ExAC gnomAD
CA128365166 rs980216213	31	L>I		No	ClinGen Ensembl
CA128365175 rs1033929121	32	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs563648142 CA3445551	32	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563648142 CA128365179	32	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782698365 CA3445552	33	Y>C		No	ClinGen ExAC gnomAD
rs992440711 CA361230857	34	S>A		No	ClinGen TOPMed gnomAD
CA128365184 rs992440711	34	S>T		No	ClinGen TOPMed gnomAD
CA361230923 rs1375501923	36	P>R		No	ClinGen TOPMed
rs782797910 CA3445555	36	P>S		No	ClinGen ExAC gnomAD
rs782489216 CA361230932	37	E>*		No	ClinGen ExAC gnomAD
rs782489216 CA3445557	37	E>K		No	ClinGen ExAC gnomAD
TCGA novel	39	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	39	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1562150572 CA361231025	40	K>N		No	ClinGen Ensembl
rs1554119247 CA361231050	41	H>Y		No	ClinGen gnomAD
CA3445559 rs149618945	42	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149618945 CA361231066	42	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149618945 CA3445558	42	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361231204 rs1554119258	47	R>P		No	ClinGen gnomAD
CA3445564 rs782637404	48	I>F		No	ClinGen ExAC TOPMed gnomAD
rs781929657 CA3445567	49	A>E		No	ClinGen ExAC gnomAD
CA3445566 rs374233673	49	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361231289 rs1554119265	50	Q>*		No	ClinGen gnomAD
CA361231314 rs1210282107	51	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782117441 CA3445572	53	G>E		No	ClinGen ExAC gnomAD
rs782117441 CA3445573	53	G>V		No	ClinGen ExAC gnomAD
CA3445574 rs781951515	54	L>P		No	ClinGen ExAC
CA3445575 rs782068523	56	L>M		No	ClinGen ExAC TOPMed gnomAD
CA3445576 rs782699751	56	L>P		No	ClinGen ExAC TOPMed gnomAD
rs148377577 CA3445577	57	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377636774 CA3445578	58	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA128365266 rs1050159776	61	P>L		No	ClinGen TOPMed gnomAD
CA361231474 rs1050159776	61	P>Q		No	ClinGen TOPMed gnomAD
CA3445579 rs782789633	64	F>L		No	ClinGen ExAC gnomAD
rs1554119276 CA361231513	64	F>S		No	ClinGen gnomAD
CA361231527 rs1554119278	65	R>Q		No	ClinGen gnomAD
CA3445580 rs781848883	66	V>M		No	ClinGen ExAC TOPMed gnomAD
rs111485070 CA3445581	67	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361231561 rs1562151087	68	S>P		No	ClinGen Ensembl
rs1292084700 CA361231575	69	K>E		No	ClinGen TOPMed gnomAD
rs1412386680 CA361231581	69	K>R		No	ClinGen TOPMed
rs1554119283 CA361231594	70	R>G		No	ClinGen gnomAD
rs1554119284 CA361231604	70	R>S		No	ClinGen gnomAD
rs782193156 CA3445583	70	R>T		No	ClinGen ExAC gnomAD
CA361231619 rs1554119289	71	H>R		No	ClinGen gnomAD
rs782561212 CA3445584	71	H>Y		No	ClinGen ExAC gnomAD
rs200571163 CA3445586 CA3445587	72	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3445588 rs200571163	72	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1581612901 CA361231657	73	D>E		No	ClinGen Ensembl
CA361231653 rs1554119295	73	D>G		No	ClinGen gnomAD
CA3445589 rs782211568	73	D>N		No	ClinGen ExAC gnomAD
TCGA novel	76	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	77	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361231720 rs1461461674	78	N>K		No	ClinGen TOPMed
rs782326871 CA3445590	79	L>M		No	ClinGen ExAC TOPMed gnomAD
rs781923854 CA3445591	80	Q>E		No	ClinGen ExAC gnomAD
CA361231762 rs1554119297	81	N>K		No	ClinGen gnomAD
CA3445592 rs199539947	82	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361231770 rs1554119299	83	I>V		No	ClinGen gnomAD
rs995364036 CA128365350	84	L>F		No	ClinGen Ensembl
rs782405254 CA3445593	84	L>S		No	ClinGen ExAC gnomAD
rs200649333 CA3445595	86	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3445598 rs145951382	89	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145951382 CA3445597	89	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1433698 COSM1433699 CA3445596 rs145951382	89	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1554119311 COSM273083 CA361231845 COSM273084	89	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs781896269 CA3445600	92	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA128365421 rs1035739838	93	E>D		No	ClinGen TOPMed
CA3445602 rs782640497	96	C>*		No	ClinGen ExAC gnomAD
rs1334999466 CA361231952	96	C>G		No	ClinGen TOPMed
rs139811211 CA361231970	97	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361231979 rs1554119334	97	G>V		No	ClinGen gnomAD
CA3445603 rs139811211	97	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA361231996 rs1554119335	99	S>G		No	ClinGen gnomAD
rs1307136021 CA361232007 CA361232010	99	S>R		No	ClinGen TOPMed gnomAD
CA128365427 rs376518025	100	A>G		No	ClinGen ESP
rs782485600 COSM205036 CA3445604 COSM205037	101	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361232066 rs1461774717	103	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361232070 rs1393544461	103	S>N		No	ClinGen TOPMed
TCGA novel	105	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3445608 VAR_024389 CA128365462 rs11167600	106	V>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361232118 rs11167600	106	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	107	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361232174 rs1554119350	109	I>M		No	ClinGen gnomAD
CA361232184 rs1460117742	110	V>A		No	ClinGen TOPMed
CA3445610 rs782371929	113	P>L		No	ClinGen ExAC gnomAD
COSM1619581 COSM1619580 CA3445609 rs7727472	113	P>T	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3445612 rs17844245	116	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361232268 rs1581613636	116	V>G		No	ClinGen Ensembl
rs782318515 CA3445613	118	H>Q		No	ClinGen ExAC gnomAD
CA3445614 rs555159922	119	V>E		No	ClinGen 1000Genomes ExAC gnomAD
rs782451559 CA128366805	120	E>A		No	ClinGen Ensembl
rs782786984 CA3445616	120	E>D		No	ClinGen ExAC TOPMed gnomAD
rs782151526 CA3445615	120	E>K		No	ClinGen ExAC gnomAD
rs782107919 CA3445619	121	V>A		No	ClinGen ExAC TOPMed gnomAD
rs782107919 CA3445618	121	V>E		No	ClinGen ExAC TOPMed gnomAD
rs782107919 CA361234318	121	V>G		No	ClinGen ExAC TOPMed gnomAD
rs782432943 CA3445621	122	E>G		No	ClinGen ExAC gnomAD
CA361234321 rs1211398216	122	E>K		No	ClinGen TOPMed
rs370073139 CA3445623	123	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs370073139 CA361234351	123	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs782690809 CA3445622	123	V>M		No	ClinGen ExAC
rs1260753639 CA361234358	124	K>T		No	ClinGen TOPMed
rs1036932666 CA128366840	125	D>A		No	ClinGen Ensembl
CA361234372 rs1237719977	125	D>N		No	ClinGen TOPMed
CA3445625 rs373905526	126	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs563548858 CA3445626	127	N>K		No	ClinGen ExAC TOPMed gnomAD
CA361234453 rs1554119383	128	D>H		No	ClinGen gnomAD
CA361234468 rs1554119384	129	N>H		No	ClinGen gnomAD
CA3445627 rs782462805	129	N>T		No	ClinGen ExAC gnomAD
rs1554119389 CA361234502	130	P>L		No	ClinGen gnomAD
CA3445628 rs782581026	130	P>T		No	ClinGen ExAC gnomAD
CA128366853 rs781909912	131	P>L		No	ClinGen Ensembl
CA361234529 rs1554119393	132	I>V		No	ClinGen gnomAD
TCGA novel	134	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3445630 rs782409736	135	M>T		No	ClinGen ExAC gnomAD
rs782169407 CA3445629	135	M>V		No	ClinGen ExAC TOPMed gnomAD
CA361234629 rs1581613955	136	T>I		No	ClinGen Ensembl
rs1554119405 CA361234665	138	K>*		No	ClinGen gnomAD
CA3445632 rs149936360	138	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA128366897 rs905713066	139	T>A		No	ClinGen Ensembl
CA361234724 rs1387448123	140	I>L		No	ClinGen TOPMed gnomAD
CA3445634 rs144974749	140	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361234728 rs1159165318	140	I>N		No	ClinGen TOPMed
CA361234738 rs149113769	141	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA361234748 rs1056911639	141	R>L		No	ClinGen gnomAD
CA128366945 rs1056911639	141	R>P		No	ClinGen gnomAD
COSM1433702 rs149113769 CA3445635 COSM1433703	141	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1562152745 CA361234786	143	P>A		No	ClinGen Ensembl
rs1562152745 CA361234788	143	P>S		No	ClinGen Ensembl
CA3445636 rs376858335	145	S>P		No	ClinGen ESP ExAC gnomAD
CA3445637 rs782032451	146	R>G		No	ClinGen ExAC gnomAD
rs782143326 CA3445638	146	R>K		No	ClinGen ExAC gnomAD
rs1176048892 CA361234999	149	D>H		No	ClinGen TOPMed
rs782770242 CA3445639	151	R>L		No	ClinGen ExAC gnomAD
rs782485078 CA361235121	153	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3445641 rs782485078	153	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1455113035 CA361235113	153	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3445642 rs782726612	154	L>V		No	ClinGen ExAC gnomAD
rs895450115 COSM246422 COSM246421 CA128367031	156	G>A	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1448312261 CA361235203	156	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361235242 rs1204251314	157	A>S		No	ClinGen TOPMed gnomAD
CA361235269 rs1347907784	158	S>Y		No	ClinGen TOPMed
CA361235296 rs1581614405	159	D>V		No	ClinGen Ensembl
CA361235279 rs1581614390	159	D>Y		No	ClinGen Ensembl
rs1554119441 CA361235366	161	D>V		No	ClinGen gnomAD
rs782265276 CA3445646	162	I>M		No	ClinGen ExAC gnomAD
CA3445645 rs782684873 COSM4141448 COSM4141449	162	I>T	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3445644 rs369830742	162	I>V		No	ClinGen ESP ExAC gnomAD
rs782614505 CA3445648	167	L>P		No	ClinGen ExAC
CA361235556 rs1347105213	168	L>F		No	ClinGen TOPMed
CA361235606 rs1300927471	169	S>Y		No	ClinGen TOPMed
CA361235701 rs1554119451	172	L>F		No	ClinGen gnomAD
rs139118636 CA3445650	173	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs868933408 CA361235800	176	E>K		No	ClinGen Ensembl
rs1554119455 CA361235813	176	E>V		No	ClinGen gnomAD
rs370399359 CA3445653	177	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	180	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3445655 rs782001303	180	L>R		No	ClinGen ExAC TOPMed gnomAD
CA361235949 rs1381910879	180	L>V		No	ClinGen TOPMed
rs1314870723 CA361235956	181	D>H		No	ClinGen TOPMed
CA3445656 rs147884726	181	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs954251616 CA128367100	182	I>T		No	ClinGen TOPMed
CA361236048 rs1172088574	183	Q>*		No	ClinGen TOPMed gnomAD
CA3445657 rs782757150	183	Q>H		No	ClinGen ExAC TOPMed gnomAD
COSM736365 rs781948718 COSM736364 CA3445658	187	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1191999801 CA361236236	189	S>G		No	ClinGen TOPMed
rs141531617 CA3445659	189	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554119476 CA361236291	190	E>D		No	ClinGen gnomAD
rs1211012321 CA361236322	191	S>F		No	ClinGen TOPMed
rs1554119483 CA361236363	192	L>F		No	ClinGen gnomAD
rs1562153588 CA361236323	192	L>M		No	ClinGen Ensembl
CA361236372 rs1554119485	193	S>P		No	ClinGen gnomAD
rs782761856 CA3445663	196	L>P		No	ClinGen ExAC gnomAD
rs1197539931 CA361236522	199	S>*		No	ClinGen TOPMed
rs1554119491 CA361236519	199	S>A		No	ClinGen Ensembl
CA3445664 rs781846496	200	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	202	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3445665 rs190108115	203	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1338741055 CA361236711	204	E>G		No	ClinGen TOPMed gnomAD
CA361236714 rs1338741055	204	E>V		No	ClinGen TOPMed gnomAD
rs931193949 CA128367146	206	A>D		No	ClinGen Ensembl
rs1554119499 CA361236852	207	E>G		No	ClinGen gnomAD
CA361236870 rs1554119502	208	V>F		No	ClinGen gnomAD
rs201598508 CA128367152	209	N>D		No	ClinGen ESP gnomAD
rs144006982 CA3445667	209	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554119506 CA361236986	210	L>F		No	ClinGen gnomAD
CA361237001 rs1562153969	211	L>*		No	ClinGen Ensembl
rs782557173 CA3445669	212	L>P		No	ClinGen ExAC gnomAD
rs782378293 CA3445672	217	G>A		No	ClinGen ExAC TOPMed gnomAD
rs782378293 CA361237180	217	G>V		No	ClinGen ExAC TOPMed gnomAD
CA361237257 rs1554119509	220	P>H		No	ClinGen Ensembl
CA361237307 rs1554119510	223	T>R		No	ClinGen gnomAD
CA3445674 rs782208465	224	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361237344 rs1167729742	226	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361237373 rs1474196647	227	Q>H		No	ClinGen TOPMed
CA3445677 rs150530045	228	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	228	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs937213419 CA128367176	229	L>R		No	ClinGen TOPMed gnomAD
CA361237407 rs1554119517	230	I>L		No	ClinGen gnomAD
CA361237414 rs1057279342	230	I>N		No	ClinGen TOPMed gnomAD
CA128367179 rs1057279342	230	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1554119521 CA361237420	231	K>T		No	ClinGen gnomAD
CA3445680 rs536063756	234	D>Y		No	ClinGen ExAC gnomAD
rs781812595 CA3445682	235	V>A		No	ClinGen ExAC TOPMed gnomAD
CA361237458 rs1554119529	237	D>N		No	ClinGen gnomAD
rs1554119530 CA361237466	238	N>H		No	ClinGen gnomAD
CA3445683 rs140965227	239	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA128367214 rs895598108	240	P>S		No	ClinGen gnomAD
CA3445684 rs782806378	243	A>T		No	ClinGen ExAC gnomAD
CA3445685 rs781888206	243	A>V		No	ClinGen ExAC gnomAD
CA361237504 rs1554119536	244	Q>*		No	ClinGen gnomAD
TCGA novel	244	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782631973 CA361237508	244	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs782631973 CA3445687	244	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs782631973 CA361237507	244	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	245	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1562154576 CA361237522	246	V>A		No	ClinGen Ensembl
rs781839041 CA3445688	247	Y>*		No	ClinGen ExAC gnomAD
rs782408299 CA128367231	247	Y>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3445690 rs782461058	249	V>A		No	ClinGen ExAC
rs781955291 CA128367249	249	V>I		No	ClinGen TOPMed gnomAD
CA3445693 rs375544937	251	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581615941 CA361237552	251	L>S		No	ClinGen Ensembl
CA3445692 rs782170874	251	L>V		No	ClinGen ExAC gnomAD
rs368563521 CA3445695	254	N>S		No	ClinGen ESP ExAC gnomAD
CA361237582 rs1554119559	256	A>T		No	ClinGen TOPMed
CA3445697 rs781957318	257	N>D		No	ClinGen ExAC gnomAD
rs1554119562 CA361237602	259	T>A		No	ClinGen gnomAD
rs1282542350 CA361237624	262	V>A		No	ClinGen TOPMed
rs782070624 CA3445698	262	V>F		No	ClinGen ExAC gnomAD
rs782311905 CA3445699	263	K>E		No	ClinGen ExAC gnomAD
rs182370314 CA128367305	264	L>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs182370314 CA361237632	264	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs782144250 CA3445701	266	A>P		No	ClinGen ExAC gnomAD
CA3445703 rs781857494	272	G>E		No	ClinGen ExAC gnomAD
rs1328538112 CA361237702	274	N>S		No	ClinGen TOPMed
CA361237708 rs1464400979	275	S>C		No	ClinGen TOPMed
rs782729838 CA3445705	275	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3445707 rs782443801	277	I>M		No	ClinGen ExAC gnomAD
CA3445706 rs199883861	277	I>T		No	ClinGen ExAC gnomAD
CA361237748 rs1165165877	281	L>F		No	ClinGen TOPMed gnomAD
CA361237754 rs782626454	282	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1554119572 CA361237755	282	G>D		No	ClinGen gnomAD
CA3445711 rs782626454	282	G>R		No	ClinGen ExAC TOPMed gnomAD
CA361237753 rs782626454	282	G>S		No	ClinGen ExAC TOPMed gnomAD
rs782218525 CA3445712	283	S>N		No	ClinGen ExAC gnomAD
rs782218525 CA361237761	283	S>T		No	ClinGen ExAC gnomAD
CA361237773 rs1178449834	285	V>M		No	ClinGen TOPMed gnomAD
CA361237786 rs1232238860	287	S>P		No	ClinGen TOPMed gnomAD
rs782575162 CA3445715	288	T>S		No	ClinGen ExAC gnomAD
rs782292458 CA361237845 CA3445716	290	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA128367352 rs1032626475	291	T>A		No	ClinGen TOPMed gnomAD
rs201828641 CA3445718	293	F>L		No	ClinGen ExAC TOPMed gnomAD
CA361237903 rs1554119587	294	T>A		No	ClinGen gnomAD
CA3445720 rs374222606	295	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs889935841 CA128367355	295	I>T		No	ClinGen gnomAD
rs1554119592 CA361237944 COSM736356 COSM736357	296	D>E	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361237953 rs868955001	297	P>S		No	ClinGen Ensembl
rs1351948866 CA361237980	298	I>M		No	ClinGen TOPMed gnomAD
rs1554119595 CA361237988	299	S>P		No	ClinGen gnomAD
rs562047607 CA128367360	300	G>R		No	ClinGen 1000Genomes TOPMed
CA128367368 rs368109410	303	R>I		No	ClinGen ESP TOPMed
CA361238069 rs1439639533	303	R>S		No	ClinGen TOPMed
rs1562155662 CA361238092	305	K>E		No	ClinGen Ensembl
rs782787763 CA3445729	306	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs782136038 CA361238116 CA3445727	306	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
TCGA novel	307	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554119607 CA361238147	307	K>R		No	ClinGen gnomAD
rs1554119610 CA361238166	308	L>*		No	ClinGen gnomAD
CA361238181 rs1156745166	309	D>G		No	ClinGen TOPMed gnomAD
CA3445730 rs781846968	309	D>N		No	ClinGen ExAC gnomAD
rs1156745166 CA361238183	309	D>V		No	ClinGen TOPMed gnomAD
rs192661342 CA3445731	310	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361238195 rs1455564883	310	Y>D		No	ClinGen TOPMed
rs1455564883 CA361238191	310	Y>N		No	ClinGen TOPMed
rs782718867 CA3445732	312	E>K		No	ClinGen ExAC gnomAD
rs781797873 CA3445733	312	E>V		No	ClinGen ExAC gnomAD
CA361238253 rs1554119614	313	A>S		No	ClinGen gnomAD
rs138543529 CA3445736 CA361238311	316	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3445734 rs145876467	316	Y>H		No	ClinGen ESP ExAC gnomAD
rs17844246 CA3445737	317	E>*		No	ClinGen ExAC TOPMed gnomAD
rs17844246 COSM1696255 COSM1696254 CA3445738	317	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1554119620 CA361238320	317	E>V		No	ClinGen gnomAD
CA128367442 rs965421102	318	I>S		No	ClinGen Ensembl
CA361238335 rs965421102	318	I>T		No	ClinGen Ensembl
CA3445739 rs782205660	318	I>V		No	ClinGen ExAC gnomAD
rs1554119626 CA361238363	319	Q>H		No	ClinGen gnomAD
rs1447646142 CA361238368	320	V>I		No	ClinGen TOPMed gnomAD
CA361238400 rs1562156062 COSM1310617 COSM1310616	322	A>T	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA3445742 rs376704812	325	K>E		No	ClinGen ESP ExAC gnomAD
rs1350707667 CA361238478	326	G>R		No	ClinGen TOPMed
rs200424378 CA3445743	327	T>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	327	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	328	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361238563 rs952716239 CA128367463	330	M>I		No	ClinGen TOPMed gnomAD
TCGA novel	332	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782107752 CA3445745	332	G>A		No	ClinGen ExAC gnomAD
rs782107752 CA361238595	332	G>V		No	ClinGen ExAC gnomAD
rs386352344 RCV000122559 CA232328	337	S>*		No	ClinGen ClinVar Ensembl dbSNP
rs386352344 CA128367471	337	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs781944142 CA3445747	338	L>S		No	ClinGen ExAC gnomAD
rs1290254887 CA361238706	339	K>E		No	ClinGen TOPMed
CA3445748 rs782060780	340	L>F		No	ClinGen ExAC TOPMed gnomAD
rs533295201 CA361238764	341	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3445749 rs533295201	341	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1554119635 CA361238749	341	V>M		No	ClinGen gnomAD
CA361238784 rs1554119641	342	D>A		No	ClinGen gnomAD
CA361238791 rs1554119641	342	D>V		No	ClinGen gnomAD
rs1554119645 CA361238805	343	I>V		No	ClinGen gnomAD
rs1436455435 CA361238851	344	N>K		No	ClinGen TOPMed
rs1295846717 CA361238843	344	N>S		No	ClinGen TOPMed
rs781892845 CA3445750	345	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3445752 rs782767651	347	T>K		No	ClinGen ExAC gnomAD
CA3445751 rs782135378	347	T>S		No	ClinGen ExAC gnomAD
TCGA novel	349	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361238994 rs1554119652	350	V>I		No	ClinGen gnomAD
CA128367495 rs992640978	352	I>T		No	ClinGen TOPMed gnomAD
CA3445755 rs782572566	352	I>V		No	ClinGen ExAC gnomAD
rs17844247 CA361239059	353	T>P		No	ClinGen Ensembl
rs782551806 CA3445757	355	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361239163 rs1421469626	357	L>H		No	ClinGen TOPMed gnomAD
rs1554119659 COSM283789 COSM283788 CA361239271	361	E>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs782659941 CA3445758	362	N>D		No	ClinGen ExAC gnomAD
CA3445760 rs139541416	362	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1061834 COSM1061833 rs782621383 CA3445761	363	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1214557542 CA361239368	364	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361239410 rs1554119671	366	G>A		No	ClinGen gnomAD
CA361239402 rs1554119669	366	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3445763 rs782315024	367	T>A		No	ClinGen ExAC gnomAD
rs782038098 CA3445764	367	T>I		No	ClinGen ExAC TOPMed gnomAD
COSM1729450 rs782038098 COSM1729449 CA3445765	367	T>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1210866356 CA361239475	368	V>A		No	ClinGen TOPMed
rs1210866356 CA361239471	368	V>D		No	ClinGen TOPMed
rs1562156896 CA361239491	369	I>F		No	ClinGen Ensembl
CA361239516 rs1554119684	369	I>M		No	ClinGen gnomAD
CA3445766 rs782391222	369	I>T		No	ClinGen ExAC gnomAD
CA3445767 rs781982977	370	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782104622 CA3445768	371	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361239631 rs1554119688	372	I>M		No	ClinGen gnomAD
COSM3946917 CA361239659 COSM3946916 rs781801031	373	T>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs781801031 CA3445771	373	T>M	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs782725155 CA361239636	373	T>P		No	ClinGen ExAC gnomAD
CA361239663 rs781801031	373	T>R		No	ClinGen ExAC TOPMed
rs782725155 CA3445769	373	T>S		No	ClinGen ExAC gnomAD
rs371276136 CA3445773	375	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs781879420 CA3445774	377	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782512919 CA3445775	377	R>P		No	ClinGen ExAC TOPMed gnomAD
rs781879420 CA361239789	377	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3445776 rs782629565	378	D>N		No	ClinGen ExAC gnomAD
CA361239839 rs1554119699	379	S>P		No	ClinGen gnomAD
rs1554119707 CA3445778	380	G>D		No	ClinGen Ensembl
CA361239866 rs1554119701	380	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361239904 rs781833045	381	T>K		No	ClinGen ExAC TOPMed gnomAD
rs781833045 CA3445780	381	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3445782 rs17844248	384	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA361240006 rs935693327	385	V>A		No	ClinGen gnomAD
CA128367578 rs935693327	385	V>D		No	ClinGen gnomAD
rs1581618052 CA361239994	385	V>F		No	ClinGen Ensembl
rs782260247 CA128367585	386	T>I		No	ClinGen TOPMed
TCGA novel	388	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361240136 rs1170903796	390	T>K		No	ClinGen TOPMed gnomAD
CA361240138 rs1170903796	390	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs566698414 CA3445785	391	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs782363185 CA3445787 CA361240180	392	H>Q		No	ClinGen ExAC gnomAD
rs1423182974 CA361240177	392	H>R		No	ClinGen TOPMed
CA361240193 rs1554119739	393	V>D		No	ClinGen gnomAD
CA361240185 rs1054445908	393	V>F		No	ClinGen TOPMed gnomAD
rs1054445908 CA128367631	393	V>I		No	ClinGen TOPMed gnomAD
CA361240188 rs1054445908	393	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	394	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781951812 CA3445788	396	K>R		No	ClinGen ExAC gnomAD
CA128367645 rs890080538	397	L>V		No	ClinGen Ensembl
TCGA novel	399	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782030377 CA3445791	399	S>F		No	ClinGen ExAC gnomAD
CA361240344 rs1581618359	401	F>Y		No	ClinGen Ensembl
CA3445792 rs782143302	406	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554119753 CA361240481	408	V>M		No	ClinGen gnomAD
CA361240549 rs782096647 CA361240552	411	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3445797 rs549114768	412	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA361240581 rs1234815335	413	L>Q		No	ClinGen TOPMed
rs782549832 CA3445799	415	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1241551 COSM1241550 rs782813610 CA3445801	415	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782813610 CA3445800	415	R>P		No	ClinGen ExAC gnomAD
CA361240627 rs782513202	416	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs537511000 CA361240644 CA3445803	416	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs782513202 COSM1219560 COSM1219561 CA3445802	416	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA128367731 rs376783132	417	S>N		No	ClinGen ESP
rs782215868 CA3445804	417	S>R		No	ClinGen ExAC TOPMed gnomAD
CA361240669 CA361240666 rs782456335	418	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3445805 rs782456335	418	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782293128 CA3445807	420	A>V		No	ClinGen ExAC TOPMed gnomAD
COSM1061838 rs1418613785 COSM1061837 CA361240755	422	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	424	V>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361240796 rs1554119777	425	V>M		No	ClinGen gnomAD
rs1554119779 CA361240821	426	T>I		No	ClinGen gnomAD
rs1422523860 CA361240833	427	A>P		No	ClinGen TOPMed
rs148429256 CA3445813	428	R>P		No	ClinGen ESP ExAC gnomAD
rs148429256 CA361240858	428	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA361240864 rs1554119788	429	D>N		No	ClinGen gnomAD
CA361240903 rs1178356320	430	G>A		No	ClinGen TOPMed gnomAD
CA361240887 rs1554119789	430	G>R		No	ClinGen gnomAD
CA361240897 rs1178356320	430	G>V		No	ClinGen TOPMed gnomAD
CA361240889 rs1554119789	430	G>W		No	ClinGen gnomAD
CA3445815 COSM1754027 COSM1754028 rs782027744	432	S>L	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
COSM317810 rs1457591142 COSM317811 CA361240951	433	P>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1457591142 CA361240944	433	P>T		No	ClinGen TOPMed gnomAD
CA3445816 rs782137049	434	S>A		No	ClinGen ExAC gnomAD
rs1554119803 CA361240980	435	L>V		No	ClinGen gnomAD
rs200076458 CA3445818	436	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782466691 CA3445819	436	W>*		No	ClinGen ExAC gnomAD
TCGA novel	437	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335115262 CA361241022	437	A>V		No	ClinGen TOPMed gnomAD
rs782718624 CA3445820	438	T>N		No	ClinGen ExAC gnomAD
CA361241026 rs1581619076	438	T>P		No	ClinGen Ensembl
rs781787997 CA3445821	439	T>I		No	ClinGen ExAC TOPMed gnomAD
CA361241046 rs1581619103	439	T>P		No	ClinGen Ensembl
rs781787997 CA361241053	439	T>S		No	ClinGen ExAC TOPMed gnomAD
CA361241073 rs1554119809	440	S>N		No	ClinGen gnomAD
CA361241083 rs1554119811 CA361241080	440	S>R		No	ClinGen gnomAD
rs1241984619 CA361241098	441	V>A		No	ClinGen TOPMed gnomAD
CA361241093 rs1241984619	441	V>E		No	ClinGen TOPMed gnomAD
CA3445822 rs782550930	441	V>L		No	ClinGen ExAC gnomAD
CA361241106 rs1307599931	442	S>P		No	ClinGen TOPMed
rs1554119822 CA361241156	444	E>D		No	ClinGen gnomAD
CA361241135 rs539789047 COSM1061840 COSM1061839	444	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs539789047 CA3445824	444	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3445825 rs558179356	446	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782317844 CA3445828	447	D>A		No	ClinGen ExAC gnomAD
CA361241243 rs1365670963	447	D>E		No	ClinGen TOPMed gnomAD
rs782204600 CA361241228 COSM3428964 COSM3428963	447	D>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3445827 rs782204600	447	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1554119831 CA361241252	448	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361241294 rs782287156	449	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3445831 rs782400108	450	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1554119838 CA361241311	450	D>H		No	ClinGen gnomAD
rs376199248 CA3445832	451	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3409799 COSM3409798 rs782095286 CA3445833	452	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361241363 rs1195907672	452	A>V		No	ClinGen TOPMed gnomAD
CA3445836 rs782053456	454	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3445837 rs372842569	455	F>L		No	ClinGen ESP ExAC gnomAD
CA361241440 rs1239286349 COSM258853 COSM258852	456	A>T	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA361243153 rs782132897	458	P>A		No	ClinGen ExAC gnomAD
CA361243167 rs1351448995	458	P>R		No	ClinGen TOPMed gnomAD
rs782132897 CA3445839	458	P>S		No	ClinGen ExAC gnomAD
rs1554119859 CA361243272	462	V>A		No	ClinGen gnomAD
CA361243294 rs1234756040	463	F>C		No	ClinGen TOPMed
CA361243339 rs1554119866	464	V>A		No	ClinGen gnomAD
CA3445843 rs574219981	464	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574219981 CA3445842	464	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA128367945 rs977122092	465	K>R		No	ClinGen Ensembl
rs868995435 CA361243363	466	E>K		No	ClinGen Ensembl
rs1554119874 CA361243416	468	N>T		No	ClinGen Ensembl
CA128367966 rs782314094	469	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782314094 CA361243437	469	P>R		No	ClinGen TOPMed gnomAD
CA3445845 rs782543365	470	P>S		No	ClinGen ExAC gnomAD
CA361243472 rs1359187318	471	G>V		No	ClinGen TOPMed
CA3445847 rs782256152	474	I>F		No	ClinGen ExAC gnomAD
TCGA novel	475	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581619871 CA361243660	476	T>M		No	ClinGen Ensembl
CA361243687 rs1176150455	477	V>E		No	ClinGen TOPMed gnomAD
rs782361395 CA3445848	477	V>L		No	ClinGen ExAC gnomAD
CA361243721 rs1454968825	478	S>L		No	ClinGen TOPMed
CA128367971 rs17844250	479	A>T		No	ClinGen Ensembl
CA128367973 rs202116317	479	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1377468953 CA361243738	480	W>R		No	ClinGen TOPMed
CA3445850 COSM589723 COSM589724 rs782196410	482	A>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs782310227 COSM589722 CA3445851 COSM589721	484	A>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782310227 CA361243896	484	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	486	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3445852 rs782029064	486	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1554119891 CA361243934	486	E>K		No	ClinGen gnomAD
CA128367981 rs942944199	487	N>Y		No	ClinGen Ensembl
TCGA novel	488	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs901321860 CA128367995	489	L>R		No	ClinGen Ensembl
rs782389342 CA3445854	489	L>V		No	ClinGen ExAC gnomAD
CA361244100 rs1554119899	492	Y>H		No	ClinGen gnomAD
rs533353991 CA3445857	493	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533353991 CA361244175	493	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361244159 rs1344009372	493	S>P		No	ClinGen TOPMed
CA361244220 rs1399470004	495	V>A		No	ClinGen TOPMed gnomAD
rs1399470004 CA361244223	495	V>G		No	ClinGen TOPMed gnomAD
CA361244202 rs1278846442	495	V>M		No	ClinGen TOPMed
rs1554119901 CA361244245	496	E>D		No	ClinGen gnomAD
CA128368029 rs994374516	497	R>G		No	ClinGen Ensembl
rs782046976 CA3445859	497	R>P		No	ClinGen ExAC gnomAD
rs1338592618 CA361244273	498	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	498	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3445861 rs782790916	499	V>E		No	ClinGen ExAC gnomAD
CA3445860 rs782790916	499	V>G		No	ClinGen ExAC gnomAD
CA3445862 rs782512629	500	G>A		No	ClinGen ExAC gnomAD
rs1315323684 CA361244297	500	G>R		No	ClinGen TOPMed gnomAD
rs1315323684 CA361244296	500	G>S		No	ClinGen TOPMed gnomAD
rs781823094 CA3445864	501	E>*		No	ClinGen ExAC gnomAD
rs144556236 CA361244332	501	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3445865 rs1554119913	501	E>G		No	ClinGen Ensembl
CA3445868 rs551711072	502	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551711072 CA3445869	502	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551711072 CA361244339	502	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs147855137 CA361244352	503	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3445871 rs147855137	503	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147855137 CA3445870	503	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3445872 rs782245079 COSM482061 COSM482062	503	A>V	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1554119935 CA361244390	504	L>F		No	ClinGen gnomAD
CA361244409 rs567436398	505	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3445875 rs567436398	505	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3445877 rs782023000	506	S>N		No	ClinGen ExAC gnomAD
CA361244480 rs1554119942	507	Y>S		No	ClinGen gnomAD
CA3445879 rs549460778	508	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3445878 rs549460778	508	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361244543 rs1338477512	509	S>*		No	ClinGen TOPMed
CA361244561 rs1562160461	510	V>L		No	ClinGen Ensembl
CA361244644 rs1340411641	512	A>G		No	ClinGen TOPMed
rs781796613 CA3445884	514	S>G		No	ClinGen ExAC gnomAD
rs1332531928 CA361244701	514	S>N		No	ClinGen TOPMed
CA361244719 rs1554119952	515	G>D		No	ClinGen gnomAD
CA3445885 rs782557093	515	G>R		No	ClinGen ExAC TOPMed gnomAD
rs782557093 CA361244710	515	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1554119952 CA361244725	515	G>V		No	ClinGen gnomAD
rs1169490682 CA361244802	518	Y>*		No	ClinGen TOPMed gnomAD
rs370463257 CA3445886	518	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1554119955 CA361244819	519	A>G		No	ClinGen gnomAD
TCGA novel	522	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361244887 rs782562923	523	L>P		No	ClinGen ExAC gnomAD
CA3445892 rs782562923	523	L>Q		No	ClinGen ExAC gnomAD
CA3445891 rs782446771	523	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361244901 rs1581620917	524	D>N		No	ClinGen Ensembl
CA361244949 rs1183970604	525	H>Q		No	ClinGen TOPMed gnomAD
rs1554119963 CA361244952	526	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782397943 CA3445894	528	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782397943 CA3445895	528	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1228967368 CA361245069	530	L>R		No	ClinGen TOPMed gnomAD
CA361245063 rs1275067211	530	L>V		No	ClinGen TOPMed gnomAD
rs781947365 CA3445898	531	L>P		No	ClinGen ExAC gnomAD
CA3445897 rs553702843	531	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3445900 rs201395161	533	F>L		No	ClinGen ExAC gnomAD
CA128368165 rs977262440	534	Q>H		No	ClinGen Ensembl
rs1355816339	534	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782025511 CA3445902 CA3445901	535	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3445903 rs202138167	536	S>N		No	ClinGen ExAC TOPMed gnomAD
rs573477679 CA3445905 CA3445907	536	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs202138167 CA3445904	536	S>T		No	ClinGen ExAC TOPMed gnomAD
rs782655019 CA3445909	537	A>E		No	ClinGen ExAC gnomAD
CA361245215 rs782655019	537	A>G		No	ClinGen ExAC gnomAD
CA3445908 rs782549196	537	A>S		No	ClinGen ExAC TOPMed gnomAD
CA361245242 rs1396244589	539	D>N		No	ClinGen TOPMed gnomAD
rs1323573570 CA361245256	539	D>V		No	ClinGen TOPMed
TCGA novel	540	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1404224188 CA361245283	540	A>V		No	ClinGen TOPMed
CA3445912 COSM1541735 rs782611214 COSM1541734	542	V>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3445913 rs782611214	542	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3445914 rs782316579	543	P>L		No	ClinGen ExAC gnomAD
rs782316579 CA361245308	543	P>Q		No	ClinGen ExAC gnomAD
CA361245309 rs782316579	543	P>R		No	ClinGen ExAC gnomAD
rs781983903 CA3445918	546	G>A		No	ClinGen ExAC
TCGA novel	546	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128368209 rs986304665	546	G>S		No	ClinGen TOPMed gnomAD
rs574282635 CA3445921	549	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs574282635 CA3445920	549	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA361245400 rs202245278	550	T>K		No	ClinGen ExAC TOPMed gnomAD
CA3445922 rs202245278	550	T>R		No	ClinGen ExAC TOPMed gnomAD
CA361245435 rs1287866017	552	Q>P		No	ClinGen TOPMed gnomAD
CA361245436 rs1287866017	552	Q>R		No	ClinGen TOPMed gnomAD
CA128368273 rs944392120	553	V>E		No	ClinGen Ensembl
rs782749349 CA3445926	554	F>S		No	ClinGen ExAC gnomAD
CA3445927 rs781827530 COSM1219556 COSM1219557	555	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361245500 rs1554120018	556	L>Q		No	ClinGen gnomAD
rs1355078220 CA361245524	558	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361245607 rs1554120026	562	A>G		No	ClinGen gnomAD
CA3445929 COSM257675 rs782465720 COSM257676	562	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs562978091 COSM1261254 CA3445932 COSM1261253	563	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs562978091 CA128368288	563	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs377546082 CA3445934	564	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361245643 rs1554120028	565	L>M		No	ClinGen gnomAD
CA3445936 rs143287636	565	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs143287636 CA361245651	565	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA361245677 rs1347565663	566	L>W		No	ClinGen TOPMed
rs1420161301 CA361245703	567	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3445937 rs782594473	567	A>V		No	ClinGen ExAC gnomAD
CA361245725 rs1554120037	568	P>L		No	ClinGen gnomAD
CA361245752 rs1455418008	569	R>S		No	ClinGen TOPMed
CA3445940 rs782305440	570	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1245012473 CA361245806	573	A>D		No	ClinGen TOPMed
COSM283791 CA361245800 rs1477834475 COSM283790	573	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1245012473 CA361245807	573	A>V		No	ClinGen TOPMed
CA361245825 rs1554120046	575	G>D		No	ClinGen gnomAD
rs1554120045 CA361245820	575	G>S		No	ClinGen gnomAD
CA361245837 rs1554120052	576	A>E		No	ClinGen gnomAD
CA128368364 rs1047221843	576	A>S		No	ClinGen TOPMed
rs1554120057 CA361245861	578	S>R		No	ClinGen gnomAD
CA361245875 rs1554120058	579	E>D		No	ClinGen gnomAD
CA361245866 rs1562162174	579	E>Q		No	ClinGen Ensembl
rs782377938 CA3445943	580	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3445945 rs782015671	582	P>R		No	ClinGen ExAC gnomAD
rs1279813939 CA361245900	582	P>S		No	ClinGen TOPMed
CA361245910 COSM1541733 rs1218240596 COSM1541732	583	W>*	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1005604717 CA128368371	584	S>*		No	ClinGen Ensembl
rs782166727 CA3445948	586	G>D		No	ClinGen ExAC gnomAD
rs782166727 CA361245947	586	G>V		No	ClinGen ExAC gnomAD
CA361245954 rs1554120065	587	A>S		No	ClinGen gnomAD
rs1400068263 CA361245965	588	G>E		No	ClinGen TOPMed
CA3445950 rs781873607 CA3445951	588	G>R		No	ClinGen ExAC gnomAD
rs781818100 CA3445953	590	V>G		No	ClinGen ExAC gnomAD
COSM163304 COSM163303 rs1339361445 CA361245985	590	V>M	NS [Cosmic]	No	ClinGen cosmic curated TOPMed
CA361246007 rs1554120077	592	A>E		No	ClinGen gnomAD
CA3445954 rs782449118	592	A>S		No	ClinGen ExAC TOPMed gnomAD
CA361246031 rs1581622293	594	V>G		No	ClinGen Ensembl
CA3445955 rs371053543	595	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs782287927 CA3445956	595	R>P		No	ClinGen ExAC gnomAD
CA361246048 rs1554120081	596	A>S		No	ClinGen gnomAD
CA3445957 rs782526006	596	A>V		No	ClinGen ExAC gnomAD
CA128368448 rs782161037	597	V>L		No	ClinGen gnomAD
rs782228183 CA361246063	598	D>N		No	ClinGen ExAC gnomAD
rs782228183 CA3445959	598	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554120094 CA361246119	602	G>A		No	ClinGen gnomAD
rs1554120095 CA361246129	603	Y>C		No	ClinGen gnomAD
CA361246138 rs1554120101	604	N>D		No	ClinGen gnomAD
CA361246151 rs1554120104	605	A>P		No	ClinGen gnomAD
rs782183971 CA3445962	605	A>V		No	ClinGen ExAC gnomAD
CA3445964 rs782022639	606	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361246174 rs782135043	607	L>F		No	ClinGen ExAC gnomAD
rs1423336381 CA361246178	607	L>P		No	ClinGen TOPMed gnomAD
rs782135043 CA3445965	607	L>V		No	ClinGen ExAC gnomAD
rs267600383 CA128368480	608	S>L		No	ClinGen Ensembl
rs375837956 CA361246206	609	Y>*		No	ClinGen ESP TOPMed gnomAD
rs1196186829 CA361246196	609	Y>D		No	ClinGen TOPMed
CA3445967 rs782759874	610	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs185043234 CA3445968	611	L>I		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs185043234 CA3445969	611	L>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA3445971 rs145760272	613	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3445973 rs143010081	614	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143010081 CA361246291	614	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361246338 rs1554120119	616	G>C		No	ClinGen gnomAD
CA361246337 rs1554120119	616	G>R		No	ClinGen gnomAD
rs1554120120 COSM346779 CA361246357 COSM346780	617	S>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1218904769 CA361246385	618	A>G		No	ClinGen TOPMed gnomAD
CA361246374 rs782509295	618	A>P		No	ClinGen ExAC TOPMed gnomAD
rs782509295 CA3445975	618	A>S		No	ClinGen ExAC TOPMed gnomAD
rs782509295 CA361246363	618	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782194606 CA3445978	619	R>C		No	ClinGen ExAC gnomAD
rs782692143 CA3445980	619	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782692143 CA3445979	619	R>P		No	ClinGen ExAC gnomAD
CA3445977 rs782194606	619	R>S		No	ClinGen ExAC gnomAD
rs782395206 CA3445981	621	P>A		No	ClinGen ExAC gnomAD
CA361246478 COSM246417 rs1554120143 COSM246418	621	P>L	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
rs782395206 CA361246468	621	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs150299243 CA3445984	623	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs781928688 CA3445985	623	R>H		No	ClinGen ExAC gnomAD
rs150299243 CA361246499	623	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM75865 CA361246533 rs1554120148	624	V>M	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA361246555 rs1562163449	625	G>E		No	ClinGen Ensembl
rs782019473 CA3445988	628	T>K		No	ClinGen ExAC TOPMed gnomAD
CA3445992 rs782066641	630	E>V		No	ClinGen ExAC gnomAD
rs1554120158 CA361246736	631	I>M		No	ClinGen gnomAD
rs782706957 CA3445993	632	S>N		No	ClinGen ExAC gnomAD
CA361246771 rs1554120167	633	T>M		No	ClinGen gnomAD
CA3445995 rs367904525	635	R>G		No	ClinGen ESP ExAC gnomAD
rs549520039 CA3445997	636	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs149491908 CA3445998	638	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361246932 rs782493652	639	E>*		No	ClinGen ExAC gnomAD
CA3446001 rs782187936	639	E>D		No	ClinGen ExAC
rs374885355 CA3446000	639	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs782493652 CA361246911	639	E>K		No	ClinGen ExAC gnomAD
CA3445999 rs782493652	639	E>Q		No	ClinGen ExAC gnomAD
CA361246968 rs1466360830	640	A>D		No	ClinGen TOPMed
TCGA novel	640	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446002 rs782298789	642	S>F		No	ClinGen ExAC gnomAD
rs782684742 CA3446003	643	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782684742 CA128368617	643	P>R		No	ClinGen ExAC TOPMed gnomAD
CA361247074 COSM175553 COSM175552 rs143944331	644	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA361247070 rs143944331	644	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446005 rs782392168	644	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs547112587 CA3446006	645	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482463175 CA361247137	646	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782098586 CA361247141	646	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782098586 CA3446007	646	R>L		No	ClinGen ExAC TOPMed gnomAD
CA361247130 COSM353327 rs1482463175 COSM353328	646	R>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs549000416 CA128368625	648	L>F		No	ClinGen TOPMed gnomAD
rs782163071 CA361247179 CA3446010	649	V>L		No	ClinGen ExAC gnomAD
rs1581623441 CA361247245	651	V>G		No	ClinGen Ensembl
CA3446012 rs781882818	653	D>E		No	ClinGen ExAC gnomAD
TCGA novel	653	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446013 rs782122786	654	H>Q		No	ClinGen ExAC gnomAD
rs1246364353 CA361247331	655	G>S		No	ClinGen TOPMed
rs1321854589 CA361247349	656	E>K		No	ClinGen TOPMed gnomAD
rs1321854589 CA361247345	656	E>Q		No	ClinGen TOPMed gnomAD
rs1311910675 CA361247391	657	P>A		No	ClinGen TOPMed gnomAD
CA361247390 rs1311910675	657	P>T		No	ClinGen TOPMed gnomAD
rs782753362 CA3446014	658	A>G		No	ClinGen ExAC gnomAD
rs781820194 CA3446015	659	L>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554120208 CA361247496	660	T>A		No	ClinGen gnomAD
CA361247550 rs372284917	661	A>D		No	ClinGen ESP
TCGA novel	661	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372284917 CA128368635	661	A>V		No	ClinGen ESP
rs998701281 CA128368643	663	A>G		No	ClinGen Ensembl
TCGA novel	663	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	664	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446017 rs782572078	664	T>S		No	ClinGen ExAC gnomAD
CA361247643 rs1554120220	664	T>S		No	ClinGen gnomAD
rs1331830179 CA361247692	665	V>A		No	ClinGen TOPMed
rs1375197840 CA361247675	665	V>L		No	ClinGen TOPMed
rs782641897 CA3446020	666	L>F		No	ClinGen ExAC TOPMed gnomAD
rs565650637 CA3446021	667	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361247761 rs1329629372	668	S>*		No	ClinGen TOPMed
rs1369166743 CA361247793	670	V>M		No	ClinGen TOPMed
CA361247858 rs147392568	671	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361247868 rs1554120232	672	S>G		No	ClinGen gnomAD
rs1422605592 CA361247908	673	G>D		No	ClinGen TOPMed gnomAD
rs75272992 CA3446027	676	P>L		No	ClinGen ExAC TOPMed gnomAD
rs75272992 CA3446028	676	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3446029 rs781970176	677	K>E		No	ClinGen ExAC gnomAD
rs975848119 CA128368695	678	A>S		No	ClinGen TOPMed
rs868983701 CA361248051	679	S>*		No	ClinGen gnomAD
CA361248059 rs868983701	679	S>L		No	ClinGen gnomAD
rs782090194 CA3446030	679	S>T		No	ClinGen ExAC gnomAD
rs1264377943 CA361248095	680	S>L		No	ClinGen TOPMed
CA3446033 rs782153484	682	A>P		No	ClinGen ExAC gnomAD
CA3446036 rs782494955	683	W>*		No	ClinGen ExAC TOPMed gnomAD
CA361248195 rs781870691	683	W>*		No	ClinGen ExAC gnomAD
rs1239145477 CA361248188	683	W>R		No	ClinGen TOPMed
CA3446035 rs781870691	683	W>S		No	ClinGen ExAC gnomAD
rs1554120248 CA361248249	684	V>A		No	ClinGen gnomAD
CA361248215 rs1307311865	684	V>L		No	ClinGen TOPMed gnomAD
rs1307311865 CA361248210	684	V>M		No	ClinGen TOPMed gnomAD
CA361248293 rs1554120249	685	G>D		No	ClinGen gnomAD
CA361248334 rs782443070	686	A>D		No	ClinGen ExAC gnomAD
CA361248323 rs538442586	686	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538442586 CA3446038 COSM1433731 COSM1433730	686	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3446039 rs782443070	686	A>V		No	ClinGen ExAC gnomAD
CA3446040 rs556764988	687	A>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1554120257 CA361248399	688	G>A		No	ClinGen gnomAD
CA361248410 rs1554120257	688	G>V		No	ClinGen gnomAD
TCGA novel	690	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373020261 CA3446043	691	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs782231259 CA361248488	692	T>A		No	ClinGen ExAC
rs782231259 CA3446044	692	T>S		No	ClinGen ExAC
CA361248600 rs1200494140	694	V>A		No	ClinGen TOPMed
rs145817011 CA3446045	694	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446048 rs375001935 CA361248643	695	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs781930925 CA361248603	695	D>N		No	ClinGen ExAC gnomAD
rs782177977 CA3446047	695	D>V		No	ClinGen ExAC gnomAD
rs781930925 CA3446046	695	D>Y		No	ClinGen ExAC gnomAD
rs1554120266 CA361248647	696	V>I		No	ClinGen gnomAD
CA3446049 rs782011696	697	N>H		No	ClinGen ExAC
CA361248690 rs782125795	697	N>I		No	ClinGen ExAC gnomAD
rs545469246 CA3446051	697	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3446050 rs782125795	697	N>S		No	ClinGen ExAC gnomAD
rs782078913 CA3446053	698	V>G		No	ClinGen ExAC gnomAD
rs151049201 CA361248723	698	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446052 rs151049201	698	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554120281 CA361248773	699	Y>*		No	ClinGen gnomAD
rs369236781 CA3446056	702	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369236781 CA3446055	702	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	703	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446057 rs782780832	703	A>V		No	ClinGen ExAC gnomAD
rs781862610 CA3446058	705	C>*		No	ClinGen ExAC TOPMed gnomAD
COSM213417 rs1300605850 CA361248973 COSM213418	706	A>V	large_intestine Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3446061 rs139680439	707	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361248984 rs1554120290	707	V>I		No	ClinGen gnomAD
CA3446062 rs782431271	708	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361249004 rs1554120291	708	S>P		No	ClinGen gnomAD
CA3446063 rs782679376	710	L>P		No	ClinGen ExAC gnomAD
CA3446064 rs782272538	711	L>M		No	ClinGen ExAC gnomAD
rs782385792 CA3446065	713	L>P		No	ClinGen ExAC TOPMed gnomAD
CA361249137 rs1174688256	715	V>M		No	ClinGen TOPMed gnomAD
rs782334581 CA3446068	717	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1554120296 CA361249186	718	Y>C		No	ClinGen gnomAD
CA128368808 rs1054369407	719	T>A		No	ClinGen TOPMed
rs1173603026 CA361249213	720	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361249242 rs1554120301	723	C>R		No	ClinGen gnomAD
CA361249289 rs1554120305	725	V>M		No	ClinGen gnomAD
rs1554120307 CA361249325	726	P>L		No	ClinGen gnomAD
CA3446074 rs782005280	727	P>H		No	ClinGen ExAC gnomAD
CA3446073 rs782005280	727	P>R		No	ClinGen ExAC gnomAD
rs1554120308 CA361249328	727	P>T		No	ClinGen gnomAD
CA361249371 rs1562165837	728	T>S		No	ClinGen Ensembl
rs781824511 CA361249384	729	E>*		No	ClinGen ExAC TOPMed gnomAD
CA3446076 rs781824511	729	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs868974335 CA361249423	730	G>A		No	ClinGen Ensembl
CA3446077 rs782070675	731	A>G		No	ClinGen ExAC gnomAD
CA361249432 rs782070675	731	A>V		No	ClinGen ExAC gnomAD
COSM3239566 COSM3239565 CA3446078 rs201558063	732	R>C	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs781899428 CA3446079	732	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3446081 rs782645226	733	A>E		No	ClinGen ExAC gnomAD
CA3446080 rs782528536 COSM205039 COSM205038	733	A>T	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361249482 rs1320062753	734	P>L		No	ClinGen TOPMed
CA3446083 rs782486996	735	G>R		No	ClinGen ExAC gnomAD
CA361249562 rs1554120320	737	P>S		No	ClinGen gnomAD
rs532139420 CA3446085	738	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3446086 rs373175286	738	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs532139420 CA128368897	738	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs782268949 CA3446088	741	C>Y		No	ClinGen ExAC gnomAD
CA3446089 rs782378718	742	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3446090 rs781977855	743	S>G		No	ClinGen ExAC gnomAD
CA3446091 rs374379905	743	S>R		No	ClinGen ESP ExAC gnomAD
COSM1633985 CA361249700 rs1396970768 COSM1633986	744	A>T	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1554120333 CA361249716	745	V>L		No	ClinGen gnomAD
rs868943849 CA361249731	746	G>E		No	ClinGen Ensembl
CA3446092 rs782337760	746	G>R		No	ClinGen ExAC gnomAD
rs781924677 CA3446093	748	W>L		No	ClinGen ExAC TOPMed gnomAD
CA361249821 rs1173787059	750	Y>C		No	ClinGen TOPMed
rs1554120342 CA361249846	751	S>*		No	ClinGen gnomAD
CA361249865 rs1423672531	753	Q>*		No	ClinGen TOPMed
rs547468977 COSM1433737 CA3446095 COSM1433736	755	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs781865223 CA3446096	756	Q>L		No	ClinGen ExAC gnomAD
rs781865223 CA361249918	756	Q>R		No	ClinGen ExAC gnomAD
CA361249962 rs1581625432	758	V>G		No	ClinGen Ensembl
rs782112460 CA3446097	759	C>F		No	ClinGen ExAC gnomAD
CA128368931 rs1015939422	759	C>R		No	ClinGen Ensembl
rs782745043 CA3446098	759	C>W		No	ClinGen ExAC TOPMed gnomAD
CA128368969 rs963251079	760	S>C		No	ClinGen Ensembl
CA361250003 rs1554120360	761	G>A		No	ClinGen gnomAD
rs1554120364 CA361250052	763	D>E		No	ClinGen gnomAD
CA361250064 rs781823139	764	P>A		No	ClinGen ExAC TOPMed gnomAD
rs6858913 CA3446102 VAR_048523	764	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781823139 CA3446101 COSM4155490 COSM4155491	764	P>S	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3446100 rs781823139	764	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3446105 rs146594045	765	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA128369007 rs146594045	765	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446106 rs146594045	765	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446104 rs144400963	765	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs540368650 CA3446107	766	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs558931090	766	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs540368650 CA3446108	766	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs548160646 CA3446110	770	M>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	771	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361250271 rs1218080723	774	P>A		No	ClinGen TOPMed gnomAD
rs981486874 CA128369043	774	P>R		No	ClinGen TOPMed gnomAD
rs1218080723 CA361250274	774	P>S		No	ClinGen TOPMed gnomAD
CA3446111 rs782008219	775	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3446112 rs567979520	776	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361250365 rs1340196093	777	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	778	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361250389 rs1554120391	779	G>C		No	ClinGen gnomAD
rs782364093 CA3446113	781	D>G		No	ClinGen ExAC TOPMed gnomAD
rs782364093 CA361250464	781	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1554120394 CA361250449	781	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554120396 CA361250533	783	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3446114 rs141467414	784	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554120398 CA361250591	785	E>Q		No	ClinGen gnomAD
rs782081459 CA3446116	786	K>*		No	ClinGen ExAC gnomAD
CA3446115 rs782081459	786	K>E		No	ClinGen ExAC gnomAD
CA3446117 rs781921851	787	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1407707059 CA361250715	788	L>F		No	ClinGen TOPMed gnomAD
rs782152193 CA3446118	788	L>P		No	ClinGen ExAC gnomAD
CA361250769 rs1554120409	789	S>*		No	ClinGen gnomAD
rs782793787 CA3446119	790	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554120411 CA361250821	791	S>P		No	ClinGen gnomAD
COSM1495976 COSM1495977 rs1554120415 CA361250951	794	V>A	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA128369082 rs1054822282	794	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361250934 rs1054822282	794	V>L		No	ClinGen TOPMed
rs781857265 CA3446120	796	K>E		No	ClinGen ExAC gnomAD
rs782073950 CA3454452	797	P>R		No	ClinGen ExAC gnomAD
CA361259520 rs1490306705	797	P>S		No	ClinGen TOPMed
rs374951627 CA3454453	798	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs781913955 CA3454454	798	R>L		No	ClinGen ExAC gnomAD
CA3454455 rs781913955	798	R>Q		No	ClinGen ExAC gnomAD
rs782109224 CA3454458	803	D>H		No	ClinGen ExAC
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824	804	W>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361259640 rs782774245	804	W>S		No	ClinGen ExAC gnomAD
CA3454460 rs141879545	805	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454463 rs781815387	808	A>D		No	ClinGen ExAC TOPMed gnomAD
rs138901709 CA3454464	809	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782686641 CA3454465	810	L>P		No	ClinGen ExAC gnomAD
rs1363421000 CA361259736	811	R>I		No	ClinGen TOPMed
rs1586790986 CA361259751	812	A>G		No	ClinGen Ensembl
CA3454466 rs782253140	813	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3454467 rs782336746	814	M>V		No	ClinGen ExAC
CA361259787 rs1554240128	815	H>N		No	ClinGen gnomAD
rs149397164 CA3454468	816	S>G		No	ClinGen ESP ExAC gnomAD
rs782426631 CA3454484	817	S>A		No	ClinGen ExAC TOPMed gnomAD
rs782587733 CA3454485	817	S>C		No	ClinGen ExAC gnomAD
rs782426631 CA361260538	817	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1181664726 CA361260559	818	V>A		No	ClinGen TOPMed gnomAD
CA361260577 rs1554244276	819	H>P		No	ClinGen gnomAD
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444	819	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3454488 rs782634646	821	E>G		No	ClinGen ExAC gnomAD
CA3454487 rs782419098	821	E>Q		No	ClinGen ExAC gnomAD
rs147537783 CA3454489	822	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs981642614 CA128362369	823	A>T		No	ClinGen Ensembl
rs782347331 CA3454490	824	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361260711 rs1468199443	825	I>V		No	ClinGen TOPMed
rs555523473 CA3454493	827	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139355257 CA3454492	827	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782025005 CA3454494	829	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361260802 rs1278779763	830	P>T		No	ClinGen TOPMed gnomAD
CA3454495 rs201991205	832	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454497 rs201572428	834	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3454496 rs782766562	834	D>V		No	ClinGen ExAC
rs1554244431 CA361260933	836	Q>R		No	ClinGen gnomAD
CA3454498 rs782094765	837	W>C		No	ClinGen ExAC gnomAD
CA3454499 RCV000950135 rs79247475	838	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA128362405 rs369053351	838	P>T		No	ClinGen ESP TOPMed gnomAD
rs1554244455 CA361260996	839	T>A		No	ClinGen gnomAD
CA3454501 rs782544627	840	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3454502 rs577838197	842	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3454504 rs781852534	842	S>I		No	ClinGen ExAC gnomAD
rs781852534 CA3454503	842	S>N		No	ClinGen ExAC gnomAD
rs782605920 CA3454505	842	S>R		No	ClinGen ExAC gnomAD
rs199851685 CA3454506	844	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3454507 rs782437404	845	P>A		No	ClinGen ExAC gnomAD
rs560422677 CA3454508	845	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs560422677 CA3454509	845	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361261129 rs782437404	845	P>S		No	ClinGen ExAC gnomAD
rs782179145 CA3454531	846	E>G		No	ClinGen ExAC gnomAD
CA3454532 rs782321757	849	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554262240 CA361268348	851	E>G		No	ClinGen gnomAD
rs781996586 CA3454536	857	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1179266 rs782079089 COSM1179264 COSM1179272 COSM1179273 COSM1179269 COSM1179270 COSM1179277 COSM1179268 COSM1179263 COSM1179271 COSM1179278 COSM1179275 COSM1179276 COSM1179265 CA3454537 COSM1179267 COSM1179274	858	A>V	lung prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1588246273 CA361268557	860	V>G		No	ClinGen Ensembl
CA3454540 rs782068657	860	V>I		No	ClinGen ExAC gnomAD
rs1563727066 CA361268679	864	S>N		No	ClinGen Ensembl
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865	870	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs900919931 CA128372514	870	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554262289 CA361268920	872	G>D		No	ClinGen gnomAD
CA3454542 rs575518914	874	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1175529844 CA361268995	875	K>R		No	ClinGen TOPMed gnomAD
CA3454543 rs782119637	877	S>C		No	ClinGen ExAC gnomAD
CA3454546 rs552954748	878	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552954748 CA3454545	878	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373683237 CA3454547	879	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486746921 CA361269173	880	G>S		No	ClinGen TOPMed
CA128372547 rs1057913	884	D>A		No	ClinGen Ensembl
rs371269236 CA3454551	884	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454552 rs782334415	885	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3454553 rs782623559	888	I>V		No	ClinGen ExAC gnomAD
CA3454555 rs782328874	889	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3454556 rs200822345	890	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454559 rs782009776	894	I>M		No	ClinGen ExAC TOPMed gnomAD
rs142720081 CA361269729	894	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3454558 rs142720081	894	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782087059 CA3454560	895	I>F		No	ClinGen ExAC gnomAD
rs1289763016 CA361269834	897	I>V		No	ClinGen TOPMed
rs760426957 CA3454562	898	R>Q		No	ClinGen ExAC gnomAD
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274	898	R>W	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361269875 rs1554262408	899	Q>K		No	ClinGen gnomAD
CA361269953 rs1554262420	901	P>A		No	ClinGen gnomAD
CA361269962 rs1359138927	901	P>R		No	ClinGen TOPMed gnomAD
rs1314860754 CA361269972	902	T>A		No	ClinGen TOPMed
CA361270002 rs1554262437	903	N>K		No	ClinGen TOPMed
CA3454564 rs148436868	904	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554262456 CA361270119	906	I>T		No	ClinGen gnomAD
rs781853535 CA3454565	906	I>V		No	ClinGen ExAC TOPMed gnomAD
rs529364872 CA128372646	907	D>E		No	ClinGen Ensembl
CA3454567 rs142570778	907	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA128372638 rs782057926	907	D>Y		No	ClinGen TOPMed gnomAD
CA3454568 rs781835321	908	K>N		No	ClinGen ExAC gnomAD
rs782451974 CA3454569	911	F>Y		No	ClinGen ExAC gnomAD
CA3454570 rs782578873	913	T>I		No	ClinGen ExAC
rs782274123 CA3454571	914	F>S		No	ClinGen ExAC gnomAD
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708	915	G>S	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3454574 rs782270689	917	K>M		No	ClinGen ExAC gnomAD
rs782270689 CA361270554	917	K>R		No	ClinGen ExAC gnomAD
rs1259591783 CA361270565	918	E>Q		No	ClinGen TOPMed
CA361270593 rs1554262487	919	E>D		No	ClinGen gnomAD
CA3454575 rs782348993	920	T>I		No	ClinGen ExAC gnomAD
rs781972089 CA3454577	921	K>E		No	ClinGen ExAC gnomAD
rs1554262492 CA361270633	921	K>R		No	ClinGen gnomAD
rs374660085 CA3454578	926	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361270828 rs1554262513	927	K>R		No	ClinGen gnomAD
CA3454579 rs782413551	928	K>R		No	ClinGen ExAC TOPMed gnomAD
rs782413551 CA361270853	928	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1307653192 CA361270984	931	K>N		No	ClinGen TOPMed
CA128372721 rs184181976	931	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1554262529 CA361271070	934	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782776948 CA3454583	936	K>N		No	ClinGen ExAC gnomAD
CA3454584 rs781954349	939	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361271296 rs1295693430	940	N>D		No	ClinGen TOPMed
rs1554262551 CA361271322	940	N>K		No	ClinGen gnomAD
CA361271306 rs1415929182	940	N>S		No	ClinGen TOPMed
CA128372734 rs958247947	941	S>G		No	ClinGen Ensembl
CA128372735 rs17855798	941	S>N		No	ClinGen Ensembl
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132	942	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361271405 rs1301104421	943	T>A		No	ClinGen TOPMed
CA361271440 rs1554262572	944	D>E		No	ClinGen gnomAD
CA361271462 rs1463725058	945	N>Y		No	ClinGen TOPMed

No associated diseases with Q9Y5H9

10 regional properties for Q9Y5H9

Type	Name	Position	InterPro Accession
domain	Cadherin-like	21 - 133	IPR002126-1
domain	Cadherin-like	139 - 242	IPR002126-2
domain	Cadherin-like	242 - 350	IPR002126-3
domain	Cadherin-like	351 - 565	IPR002126-4
domain	Cadherin-like	588 - 678	IPR002126-5
domain	Cadherin, N-terminal	30 - 111	IPR013164
conserved_site	Cadherin conserved site	230 - 240	IPR020894-1
conserved_site	Cadherin conserved site	443 - 453	IPR020894-2
conserved_site	Cadherin conserved site	553 - 563	IPR020894-3
domain	Cadherin, C-terminal catenin-binding domain	798 - 931	IPR031904

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

1 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).

3 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
homophilic cell adhesion via plasma membrane adhesion molecules	The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.

45 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SWX5	CDH6	Cadherin-6	Bos taurus (Bovine)	PR
P79995	CDH10	Cadherin-10	Gallus gallus (Chicken)	PR
Q8UVJ7	CDHR1	Cadherin-related family member 1	Gallus gallus (Chicken)	PR
Q5DRC8	PCDHB6	Protocadherin beta-6	Pan troglodytes (Chimpanzee)	PR
Q5DRE4	PCDHA8	Protocadherin alpha-8	Pan troglodytes (Chimpanzee)	PR
Q5DRE6	PCDHA6	Protocadherin alpha-6	Pan troglodytes (Chimpanzee)	PR
Q5DRE7	PCDHA5	Protocadherin alpha-5	Pan troglodytes (Chimpanzee)	PR
Q5DRF0	PCDHA2	Protocadherin alpha-2	Pan troglodytes (Chimpanzee)	PR
Q9VJB6	CadN2	Putative neural-cadherin 2	Drosophila melanogaster (Fruit fly)	PR
Q9ULB4	CDH9	Cadherin-9	Homo sapiens (Human)	PR
P12830	CDH1	Cadherin-1	Homo sapiens (Human)	PR
Q9H159	CDH19	Cadherin-19	Homo sapiens (Human)	PR
Q9Y6N8	CDH10	Cadherin-10	Homo sapiens (Human)	PR
P55285	CDH6	Cadherin-6	Homo sapiens (Human)	PR
P19022	CDH2	Cadherin-2	Homo sapiens (Human)	PR
Q6ZTQ4	CDHR3	Cadherin-related family member 3	Homo sapiens (Human)	PR
Q9BZA8	PCDH11Y	Protocadherin-11 Y-linked	Homo sapiens (Human)	PR
Q08174	PCDH1	Protocadherin-1	Homo sapiens (Human)	PR
Q9HC56	PCDH9	Protocadherin-9	Homo sapiens (Human)	PR
Q9P2E7	PCDH10	Protocadherin-10	Homo sapiens (Human)	PR
Q9Y5H8	PCDHA3	Protocadherin alpha-3	Homo sapiens (Human)	PR
Q9UN75	PCDHA12	Protocadherin alpha-12	Homo sapiens (Human)	PR
Q9Y5I2	PCDHA10	Protocadherin alpha-10	Homo sapiens (Human)	PR
Q9UN72	PCDHA7	Protocadherin alpha-7	Homo sapiens (Human)	PR
Q9UN74	PCDHA4	Protocadherin alpha-4	Homo sapiens (Human)	PR
Q9Y5I1	PCDHA11	Protocadherin alpha-11	Homo sapiens (Human)	PR
Q9Y5H7	PCDHA5	Protocadherin alpha-5	Homo sapiens (Human)	PR
Q9UN73	PCDHA6	Protocadherin alpha-6	Homo sapiens (Human)	PR
Q9Y5H6	PCDHA8	Protocadherin alpha-8	Homo sapiens (Human)	PR
Q9Y5I3	PCDHA1	Protocadherin alpha-1	Homo sapiens (Human)	PR
Q9Y5H3	PCDHGA10	Protocadherin gamma-A10	Homo sapiens (Human)	PR
O60330	PCDHGA12	Protocadherin gamma-A12	Homo sapiens (Human)	PR
Q9Y5G4	PCDHGA9	Protocadherin gamma-A9	Homo sapiens (Human)	PR
Q9Y5G0	PCDHGB5	Protocadherin gamma-B5	Homo sapiens (Human)	PR
Q9Y5E3	PCDHB6	Protocadherin beta-6	Homo sapiens (Human)	PR
Q9Y5F1	PCDHB12	Protocadherin beta-12	Homo sapiens (Human)	PR
P09803	Cdh1	Cadherin-1	Mus musculus (Mouse)	PR
P15116	Cdh2	Cadherin-2	Mus musculus (Mouse)	PR
P70407	Cdh9	Cadherin-9	Mus musculus (Mouse)	PR
P97326	Cdh6	Cadherin-6	Mus musculus (Mouse)	PR
P70408	Cdh10	Cadherin-10	Mus musculus (Mouse)	PR
Q8VHF2	Cdhr5	Cadherin-related family member 5	Mus musculus (Mouse)	PR
P55280	Cdh6	Cadherin-6	Rattus norvegicus (Rat)	PR
Q9Z1Y3	Cdh2	Cadherin-2	Rattus norvegicus (Rat)	PR
Q767I8	Pcdha4	Protocadherin alpha-4	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MASSIRRGRG	AWTRLLSLLL	LAAWEVGSGQ	LRYSVPEEAK	HGTFVGRIAQ	DLGLELEELV
70	80	90	100	110	120
PRLFRVASKR	HGDLLEVNLQ	NGILFVNSRI	DREELCGRSA	ECSIHVEVIV	DRPLQVFHVE
130	140	150	160	170	180
VEVKDINDNP	PIFPMTVKTI	RFPESRLLDS	RFPLEGASDA	DIGVNALLSY	KLSSSEFFFL
190	200	210	220	230	240
DIQANDELSE	SLSLVLGKSL	DREETAEVNL	LLVATDGGKP	ELTGTVQILI	KVLDVNDNEP
250	260	270	280	290	300
TFAQSVYKVK	LLENTANGTL	VVKLNASDAD	EGPNSEIVYS	LGSDVSSTIQ	TKFTIDPISG
310	320	330	340	350	360
EIRTKGKLDY	EEAKSYEIQV	TATDKGTPSM	SGHCKISLKL	VDINDNTPEV	SITSLSLPIS
370	380	390	400	410	420
ENASLGTVIA	LITVSDRDSG	TNGHVTCSLT	PHVPFKLVST	FKNYYSLVLD	SALDRESVSA
430	440	450	460	470	480
YELVVTARDG	GSPSLWATTS	VSIEVADVND	NAPAFAQPEY	TVFVKENNPP	GCHIFTVSAW
490	500	510	520	530	540
DADAQENALV	SYSLVERRVG	ERALSSYVSV	HAESGKVYAL	QPLDHEEVEL	LQFQVSARDA
550	560	570	580	590	600
GVPPLGSNVT	LQVFVLDEND	NAPALLAPRA	GTAAGAVSEL	VPWSVGAGHV	VAKVRAVDAD
610	620	630	640	650	660
SGYNAWLSYE	LQLGTGSARI	PFRVGLYTGE	ISTTRALDEA	DSPRHRLLVL	VKDHGEPALT
670	680	690	700	710	720
ATATVLVSLV	ESGQAPKASS	RAWVGAAGSE	ATLVDVNVYL	IIAICAVSSL	LVLTVLLYTA
730	740	750	760	770	780
LRCSVPPTEG	ARAPGKPTLV	CSSAVGSWSY	SQQRRQRVCS	GEDPPKTDLM	AFSPSLSQGP
790	800	810	820	830	840
DSAEEKQLSE	SEYVGKPRQP	NPDWRYSASL	RAGMHSSVHL	EEAGILRAGP	GGPDQQWPTV
850	860	870	880	890	900
SSATPEPEAG	EVSPPVGAGV	NSNSWTFKYG	PGNPKQSGPG	ELPDKFIIPG	SPAIISIRQE
910	920	930	940
PTNSQIDKSD	FITFGKKEET	KKKKKKKKGN	KTQEKKEKGN	STTDNSDQ